Kallmann Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3614)
External Link https://www.disgenet.org/browser/0/1/0/C1563719
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Genes

85 genes associated with the disease Kallmann Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AMH anti-Mullerian hormone
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
AXL AXL receptor tyrosine kinase
BRD2 bromodomain containing 2
BRS3 bombesin-like receptor 3
CCDC141 coiled-coil domain containing 141
CD44 CD44 molecule (Indian blood group)
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CHD7 chromodomain helicase DNA binding protein 7
CSHL1 chorionic somatomammotropin hormone-like 1
CXCR6 chemokine (C-X-C motif) receptor 6
DCC DCC netrin 1 receptor
DUSP6 dual specificity phosphatase 6
EBF2 early B-cell factor 2
EDNRA endothelin receptor type A
EMX1 empty spiracles homeobox 1
EMX2 empty spiracles homeobox 2
EZR ezrin
FEZF1 FEZ family zinc finger 1
FGF1 fibroblast growth factor 1 (acidic)
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FN1 fibronectin 1
GHRH growth hormone releasing hormone
GLI3 GLI family zinc finger 3
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
HESX1 HESX homeobox 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
ICAM1 intercellular adhesion molecule 1
IHH indian hedgehog
IL17RD interleukin 17 receptor D
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KRT20 keratin 20, type I
LEP leptin
LEPR leptin receptor
LPAR2 lysophosphatidic acid receptor 2
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NDN necdin, melanoma antigen (MAGE) family member
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NT5E 5'-nucleotidase, ecto (CD73)
NTN1 netrin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OTX2 orthodenticle homeobox 2
PALM2-AKAP2 PALM2-AKAP2 readthrough
PAX2 paired box 2
PCSK1 proprotein convertase subtilisin/kexin type 1
PLXNA1 plexin A1
POMC proopiomelanocortin
PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha
PRL prolactin
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
SCEL sciellin
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
SHOX short stature homeobox
SIX3 SIX homeobox 3
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPRY4 sprouty homolog 4 (Drosophila)
SSTR4 somatostatin receptor 4
STS steroid sulfatase (microsomal), isozyme S
TACR3 tachykinin receptor 3
TSHZ1 teashirt zinc finger homeobox 1
TUBB3 tubulin, beta 3 class III
WDR11 WD repeat domain 11